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Multiple Sclerosis l: Introduction01:19

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Multiple sclerosis is a chronic autoimmune disease of the central nervous system (CNS) that affects the brain, spinal cord, and optic nerves. It is an inflammatory demyelinating disorder and a leading cause of neurological disability in young adults.EpidemiologyMS commonly begins between 20 and 40 years of age and is twice as common in women. Its exact cause remains unclear, but genetic susceptibility contributes, with higher risk in first-degree relatives and identical twins. A greater...
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Parkinson disease (PD) is a progressive neurodegenerative disorder primarily affecting movement, with additional non-motor features. Its pathophysiology involves complex interactions among genetic susceptibility, environmental exposures, and cellular dysfunction, including dopaminergic neuron loss, protein aggregation, and mitochondrial impairment.Selective NeurodegenerationA key feature is the degeneration of dopaminergic neurons in the substantia nigra pars compacta, leading to reduced...
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Alzheimer disease involves structural changes in the brain that begin long before symptoms appear. The most distinctive features are extracellular neuritic plaques and intracellular neurofibrillary tangles.Neuritic plaques form in the cerebral cortex and around blood vessels. These plaques contain a dense core of beta-amyloid (Aβ)—a toxic protein fragment that clumps outside neurons. The core is surrounded by damaged neuronal extensions, as well as reactive astrocytes and...
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Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
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Related Experiment Video

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[Susceptibility gene in multiple system atrophy (MSA)].

Shoji Tsuji1

  • 1Department of Neurology, The University of Tokyo Hospital.

Rinsho Shinkeigaku = Clinical Neurology
|February 13, 2015
PubMed
Summary

Genetic analysis identified the COQ2 gene as causative for multiple system atrophy (MSA). Deleterious variants in COQ2 significantly increase MSA risk, impacting coenzyme Q10 synthesis and mitochondrial function.

Area of Science:

  • Genetics
  • Neurodegenerative Diseases
  • Mitochondrial Biology

Context:

  • Multiple System Atrophy (MSA) is a rare neurodegenerative disorder with poorly understood molecular underpinnings.
  • Previous research has focused on identifying genetic factors contributing to MSA etiology.
  • Recent identification of multiplex MSA families provided a unique opportunity for genetic investigation.

Purpose:

  • To elucidate the molecular genetic basis of Multiple System Atrophy (MSA).
  • To identify causative genes and specific variants associated with MSA development.
  • To understand the role of identified genes in the disease's pathogenesis.

Summary:

  • Linkage analyses and whole-genome sequencing in MSA multiplex families identified COQ2 as a causative gene.

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  • Comprehensive nucleotide sequence analysis revealed that functionally deleterious COQ2 variants confer a strong risk for developing sporadic MSA.
  • COQ2 encodes an enzyme crucial for coenzyme Q10 biosynthesis; reduced levels are implicated in MSA pathogenesis via impaired mitochondrial electron transport and increased oxidative stress.

    • Impact:

    • Identifies COQ2 as a key genetic factor in MSA, offering new diagnostic and therapeutic targets.
    • Provides a molecular mechanism linking COQ2 dysfunction to mitochondrial impairment and oxidative stress in MSA.
    • Advances the understanding of neurodegenerative disease pathogenesis, potentially informing research into related disorders.